MUSCULAR DYSTROPHY PPT pdf

Muscular Dystrophy : Description about Myopathy, types, Muscular dystrophy eitiological factors, clinical features, diagnosis and treatment explained in this ppt.

1. MUSCULARDYSTROPHY
DR. K. MALATHI
M.D. SCHOLAR
DEPARTMENT OF KAYACHIKITSA

2. MYOPATHY:
Myopathymeansmuscledisease(Greek:myo-muscle+
patheia-pathy:suffering).
Patientswithsystemicmyopathiesoftenpresentacutelyorsub
acutely.
MyopathydonotincludediseaseoftheCNS,PERIPHERAL
NERVOUSSYSTEM,LOWERMOTORNERVOUSSYSTEM,
ORNEROMUSCULARJUNCTION.

3. Myopathies are a heterogeneous group of disorders
primarily affecting the skeletal muscle structure,
metabolism or channel function.
Congenital Myopathies
Muscular Dystrophies
Metabolic Myopathies, Toxic Myopathies
Immune-mediated or Idiopathic Inflammatory Myopathies
Associated with systemic disease etc.,

4. MUSCULARDYSTROPHY
Musculardystrophiesareinheritedmyopathies
characterizedbyprogressivemuscleweaknessand
degenerationwithsubsequentreplacementby
connectivetissueandfat.
Alsoknownas
myodystrophyandmyodystrophia.

5. Duchenne DMD,
Becker BMD,
Facioscapulohumeral FSMD,
Limb girdle LGMD
and Myotonic MMD are the common types of
muscular dystrophy caused by X linked and
autosomal inheritance.
DMD is the most common form of muscular dystrophy
Incidence -Male 1/3500

6. Duchenne muscular dystrophy DMD
X linked recessive disorder –the gene
Dystrophin, which is located in the short arm
of the X-chromosome 21, is absent or
grossly deficient
Mainly inboysbeforetheageof5years
Lifespan rarely exceeds 30years
Duchenne is worse than the BeckerMD

7. Calf muscle pseudohypertrophy
Gower’s sign –boy dependent
on his arms in order to stand up
Waddling gait

8. Khyphoscoliosis
Mental retardation
Gastro intestinal –Pseudo
Obstruction occurs
Cause of death –Dialated
Cardiomyopathy

9. Muscle weakness over abdominal muscles
Weakness ofpelvicgirdleandproximalmuscles
Thin thighs -thick calf muscles (pseudo
hypertrophied),
Poor balance
Shoulders arms bent backwards, sways back

11. Pathophysiology
Dystrophin
deficiency
Abnormal cell membrane
with increased transient
local membrane disruption
and inflows of calcium
Altered calcium
channel activity,
increases inflow
of calcium, out
flow of CK
Impaired
homeostasis of
calcium and cell
death leads to
Cell necrosis
Muscular
dystrophy

13. Becker muscular distrophy-BMD
XLinked recessive disorder
Less severethanDMD
Comes mainlytoboysafter the age of 5years , Live up
to 40years
Genetic defect in the same place of gene dystrophin,
but partially damaged –some amount of dystrophin
can be synthesised and utilised by muscles.
Proximal muscle weakness
Increased CPK levels

14. Respiratory impairment is not
frequent
No intellectual impairement

15. Facioscapulohumoraldystrophy FSMD
Autosomal dominant disorder
Males aremoreprominent then females
Occurs at any age
Gene defectisanabnormaldeletionof
tendem4qtelomere gene
Life expectancy is normal

16. Weakness in face and
shoulder girdle muscles
Difficulty inclosing the
eyes
Sensory neural deafness
Biceps andtricepsseverly
involved forearm
musclesvlooks
hypertrophied.
beevor’ssign positive

17. Myotonic muscular dystrophy MMD
An Autosomal dominant disorder
Common inboth gender adults
Classified in to two types namely-
MYOTONIC DYSTROPHY 1 –DM1
PROXIMALMYOTONIC MYOPATHY DM2 (PROMM)
The genetic defect is unstable expantionof the CTG
trinucleotide repeat in a serine theonineprotein kinase gene on
chromosome 19q.

18. Weakness of the temporalis,
sternocledomastoidsand facial
muscles
Ptosis and frontal baldhead
Grip myotonia
Early cataract
Cognitive impairment
Endocrine dysfunction
Difficulty in swallowing and
breatging
Cardiomyopathy and respiratory
insufficiency

20. Diagnosis
Dystrophin gene defect –detected by DNA
analysis
Muscle biopsy –deficiency of dystrophin and
replacement of connective tissue or scar and
fat
Serum creatinine kinase –CK (elevated)
EMG–fibrillationpotentials
Screening foranassociated cardiac and
respiratory abnormality.

21. Treatment
Carticosteroids–to slow down the
progression of disease
Gene therapy
Stem cell therapy
Supportive:
Physiotherapy occupational therapy etc to
minimise the contracture

22. DR. K. MALATHI
PGSCHOLAR
DEPARTMENT OF KAYACHIKITSA